Abstract

CHARGE sendromu 1/10.000-15.000 oranında görülen ve çok sayıda doğumsal anomalinin eşlik ettiği bir sendromdur.
Yenidoğan yoğun bakım servisimize solunum sıkıntısı nedeni ile kabul edilen olguya, bilateral koanal stenoz, koroid kolobomu,
kulak anomalisi, işitme kaybı, kalp ve böbrek anomalisi saptanması üzerine CHARGE sendromu tanısı konuldu.
Olgu koanal atrezi saptanan yenidoğanlarda CHARGE sendromunun akla getirilmesi ve diğer organlara ait patolojilerin
araştırılması gerektiği, erken tanı ve tedavi ile multidisipliner yaklaşımın öneminin vurgulanması amacıyla sunuldu.

Keywords: CHARGE sendromu, Koanal atrezi, Kolobom

References

  1. Julie K, Louanne H. Neonatal presentations of Charge Syndrome and Vater/Vacterl association. Neoreviews 2008;9:299-304.
  2. Klingenberg C, Andersen WH. The Charge syndrome. Tidsskr Nor Laegeforen 2008;128:1401-5.
  3. Blake KD, Prasad C. Charge syndrome. Orphanet J Rare Dis 2006;1:34.
  4. Vuorela PE, Penttinen MT, Hietala MH, Laine JO, Huoponen KA, Kaariainen HA. A familial Charge syndrome with a CHD7 nonsense mutation and new clinical features. Clin Dysmorphol 2008;17:249- 53.
  5. Lee KD, Okazaki T, Kato Y, Lane GJ, Yamataka A. Esophageal atresia and tracheo-esophageal fi stula associated with coarctation of the aorta, Charge association and DiGeorge syndrome: A case report and literature review. Pediatr Surg Int 2008;24:1153-6.
  6. Davenport SLH, Hefner MA, Mitchell JA. The spectrum of clinical features in CHARGE syndrome. Clin Genet 1986;29:298-310.
  7. Dobbelsteyn C, Peacocke SD, Blake K, Crist W, Rashid M. Feeding diffi culties in children with Charge syndrome: Prevalence, risk factors, and prognosis. Dysphagia 2008;23:127-35.
  8. Santoro L, Ficcadenti A, Zallocco F, Gesuita R, Ceccarani P, Gabrielli O. Cognitive-motor profi le, clinical characteristics and diagnosis of CHARGE syndrome: An Italian experience. Am J Med Genet 2014;24:1-10.
  9. Anderzén-Carlsson A. CHARGE syndrome-A fi ve case study of the syndrome characteristics and health care consumption during the fi rst year in life. J Pediatr Nurs 2014;14:5963.

Copyright and license

Copyright © 2016 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.

How to cite

1.
Kara Uzun A, Demirel N, Baş AY, Çuhacı Çakır B, Öden Akman A. Yenidoğan Döneminde Bir CHARGE Sendromu Olgusu. Turk J Pediatr Dis [Internet]. 2016 Apr. 1 [cited 2025 Aug. 23];10(1):60-2. Available from: https://turkjpediatrdis.org/article/view/1142